| Entrez Gene ID | 256076 |
|---|---|
| Official Gene Symbol | COL6A5 (GeneCards) |
| Full name | collagen type VI alpha 5 chain |
| Location | 3q22.1 |
| Other ids | Vega : OTTHUMG00000159712 MIM : 611916 HGNC : HGNC:26674 Ensembl : ENSG00000172752 |
| Other names | VWA4, COL29A1 |
| Summary | This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of collagen VI to form the complete collagen VI trimer. Polymorphisms in this gene may be linked to dermal phenotypes, such as eczema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 889 | 256076 | COL6A5 | 3 | 130187922 | 130187922 | Human Skin Fibroblasts | HiSeq 2500 |